Data di Pubblicazione:
2014
Citazione:
USB1 (U6 snRNA biogenesis 1) / E. Colombo. - In: ATLAS OF GENETICS AND CYTOGENETICS IN ONCOLOGY AND HAEMATOLOGY. - ISSN 1768-3262. - 18:9(2014 Sep), pp. 678-681. [10.4267/2042/54037]
Abstract:
C16orf57 alias USB1 is the gene which mutations underlie poikiloderma with neutropenia (PN) syndrome, a rare genodermatosis with autosomic recessive inheritance. PN patients have an increased risk to develop myelodysplasia and acute myeloid leukaemia in the second decade of life. In 2012, the protein encoded by USB1 has been recognised to be a 2H phosphodiesterase involved in the processing of U6 snRNA, but its action pathway and hence role in the pathogenesis of PN has not yet been elucidated.
Tipologia IRIS:
01 - Articolo su periodico
Elenco autori:
E. Colombo
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